Principle Alpha1 Antitrypsin

Deficiency of A1AT manifests itself by damaging the lungs.

Lung irritation:

• [alveolar-macrophages] -> Elastase -> Injury to alveolar walls

A1AT Defense: Inhibits elastase

• [Liver] -> a1at -> [alveolar sacs] -> [alveolar-macrophages] -> -elastase

Thus deficiency leads to Alveolar wall injury

> Patients with a1-antitrypsin deficiency are also at risk for liver cirrhosis due to the accumulation of misfolded gene products of a1-antitrypsin in the hepatocellular endoplasmic reticulum

• origin: Liver
• manifestation-onset: <50 y
• bodysite: basilar lungs
• action: -elastase
• condition: Emphysema
• diagnosis: genetic-testing, serum a1at